Vascular malformations

Common Name(s)

Vascular malformations

Vascular malformations are a type of congenital lesion (a growth present at birth) made up of arteries, veins, capillaries and/or lymphatic vessels. About 3% of children are born with vascular malformations. These malformations are not tumors and are therefore not cancerous. Most of the lesions only cause cosmetic issues, but some can cause difficulties depending on where it forms. Unlike hemangiomas, vascular malformations are present at birth (though it may take a few weeks to even a few years to be noticeable) and grow throughout a person’s lifetime. There are several different types depending on the type of blood vessel involved. Two common types of vascular malformations are salmon patches and port wine stains.

Symptoms vary based on the location of the lesion and the affected type of blood or lymph vessel. Some growths may affect vision or breathing. The causes of most of the lesions are not well understood. Vascular malformations are believed to have a genetic cause and display autosomal dominant inheritance, meaning you only need to inherit one changed gene to cause the condition (genes come in pairs one from each parent). Most of the involved genes are not known at this time, and the change usually happens by chance (sporadic). However, affected individuals will still have a 50% chance of passing it to their children. Locations and sizes of lesions can vary greatly within a family.

In order to diagnose vascular malformations, your doctor will perform a physical exam. Other tests may include imaging tests, including MRIs, CT scans, and ultrasounds. Treatment options may include surgery, laser therapy or injection of medicine into the vessel to make it less visible; however, treatment may not always be necessary. Talk to your doctor(s) about the most current treatment options. Genetic counselors and support groups are also good sources of information and can help connect you with others affected by vascular malformations.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Vascular malformations" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Vascular malformations" returned 103 free, full-text research articles on human participants. First 3 results:

Cerebral vascular malformations: Time-resolved CT angiography compared to DSA.
 

Author(s): Jai Jai Shiva Shankar, Cheemun Lum, Santanu Chakraborty, Marlise Dos Santos

Journal: Neuroradiol J. 2015 Jun;28(3):310-5.

 

The purpose of this article is to prospectively test the hypothesis that time-resolved CT angiography (TRCTA) on a Toshiba 320-slice CT scanner enables the same characterization of cerebral vascular malformation (CVM) including arteriovenous malformation (AVM), dural arteriovenous ...

Last Updated: 6 Aug 2015

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The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.
 

Author(s): Ludmila Pawlikowska, Jeffrey Nelson, Diana E Guo, Charles E McCulloch, Michael T Lawton, William L Young, Helen Kim, Marie E Faughnan,

Journal: Am. J. Med. Genet. A. 2015 Jun;167(6):1262-7.

 

Hereditary hemorrhagic telangiectasia (HHT) is characterized by vascular malformations (VMs) and caused by mutations in TGFβ/BMP9 pathway genes, most commonly ENG or ACVRL1. Patients with HHT have diverse manifestations related to skin and mucosal telangiectases and organ VMs, including ...

Last Updated: 28 May 2015

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Evaluation of 4D vascular flow and tissue perfusion in cerebral arteriovenous malformations: influence of Spetzler-Martin grade, clinical presentation, and AVM risk factors.
 

Author(s): C Wu, S A Ansari, A R Honarmand, P Vakil, M C Hurley, B R Bendok, J Carr, T J Carroll, M Markl

Journal: AJNR Am J Neuroradiol. 2015 Jun;36(6):1142-9.

 

The role of intracranial hemodynamics in the pathophysiology and risk stratification of brain AVMs remains poorly understood. The purpose of this study was to assess the influence of Spetzler-Martin grade, clinical history, and risk factors on vascular flow and tissue perfusion in cerebral AVMs.

Last Updated: 13 Jun 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Vascular malformations" returned 25 free, full-text review articles on human participants. First 3 results:

Peripheral limb vascular malformations: an update of appropriate imaging and treatment options of a challenging condition.
 

Author(s): H Madani, J Farrant, N Chhaya, I Anwar, H Marmery, A Platts, B Holloway

Journal: Br J Radiol. 2015 Mar;88(1047):20140406.

 

Peripheral vascular malformations encompass a wide spectrum of lesions that can present as an incidental finding or produce potentially life- or limb-threatening complications. They can have intra-articular and intraosseous extensions that will result in more diverse symptomology ...

Last Updated: 20 Feb 2015

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Epidemiology, diagnostics and treatment of vascular tumours and malformations.
 

Author(s): Piotr Wójcicki, Karolina Wójcicka

Journal: Adv Clin Exp Med. ;23(3):475-84.

 

Vascular tumours and vascular malformations are common vasculose anomalies characteristic for dissimilar clinical course, specific biological as well as immune cytological and histological properties. Vascular lesions classification system and their detailed division into groups and ...

Last Updated: 1 Jul 2014

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Arteriovenous malformations and other vascular malformation syndromes.
 

Author(s): Kevin J Whitehead, Matthew C P Smith, Dean Y Li

Journal:

 

Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the ...

Last Updated: 4 Feb 2013

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

the Efficiency of Thalidomide for Recurrent Small Intestinal Bleeding Due to Gastrointestinal Vascular Malformation
 

Status: Recruiting

Condition Summary: Gastrointestinal Vascular Malformation

 

Last Updated: 30 Jul 2016

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the Efficiency of Endoscopic Treatment for Recurrent Small Intestinal Bleeding Due to Gastrointestinal Vascular Malformation
 

Status: Not yet recruiting

Condition Summary: Gastrointestinal Vascular Malformation

 

Last Updated: 19 Apr 2016

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suPERficial Slow-flow Vascular malFORMations Treated With sirolimUS
 

Status: Recruiting

Condition Summary: Vascular Malformation

 

Last Updated: 25 Feb 2016

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